A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676002



Internal ID15050087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73037318..73037329hg38UCSC Ensembl
Innerchr5:73037313..73037334hg38UCSC Ensembl
Outerchr5:73037302..73037345hg38UCSC Ensembl
chr5:72333145..72333156hg19UCSC Ensembl
Innerchr5:72333140..72333161hg19UCSC Ensembl
Outerchr5:72333129..72333172hg19UCSC Ensembl
chr5:72368901..72368912hg18UCSC Ensembl
Innerchr5:72368917..72368896hg18UCSC Ensembl
Outerchr5:72368885..72368928hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394174
Supporting Variants
SamplesNA19239
Known GenesFCHO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676002
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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